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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

A twin study of polycystic ovary syndrome.

OBJECTIVE: To examine the role of genetic and environmental factors in polycystic ovary syndrome (PCOS) by using the classic twin model. SETTING: Outpatient clinic of the Royal Hospital for Women, Paddington, Sydney, New South Wales, Australia. PATIENTS: A group of 19 monozygotic (MZ) and 15 dizygotic (DZ) twin pairs identified from the national twin register. INTERVENTIONS: Ultrasound, clinical, and biochemical parameters were used to define PCOS. RESULTS: Eleven pairs of twins (5 MZ, 6 DZ pairs) were scan-discordant (i.e., one twin had scan-PCOS and the co-twin did not). Model-fitting analysis suggested that fasting insulin level, androstanediol glucuronide, and body mass index (BMI) were significantly influenced by genetic factors. CONCLUSION: This study suggests that PCOS is not the result of a single autosomal genetic defect, but rather environmental factors, perhaps both intrauterine and extrauterine, are involved in the pathogenesis of this disorder or that PCOS may be an X-linked disorder or the result of polygenic factors. However, fasting insulin level, androstanediol glucuronide, and BMI did appear to be under significant genetic influence.[1]


  1. A twin study of polycystic ovary syndrome. Jahanfar, S., Eden, J.A., Warren, P., Seppälä, M., Nguyen, T.V. Fertil. Steril. (1995) [Pubmed]
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